Description:
PORPHYRIA, ACUTE INTERMITTENT
HYDROXYMETHYLBILANE SYNTHASE; HMBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
3 |
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| hydroxymethylbilane synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.61 |
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| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
578T>A |
| |
| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
582_586delGCGCA |
| Remarks |
Deficient uroporphyrinogen-I synthetase; donor subject is heterozygous for two different mutations in exon 10 of the HMBS gene on a single allele: a T>A transversion at nucleotide 578 (578T>A) and a 5 bp deletion at nucleotide 582 (582_586delGCGCA) |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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